NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) AND Niemann-Pick disease, type A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003473504.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)]
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
Condition(s)
-
JGI_XZG5043.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7522551 5',...
JGI_XZG5043.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7522551 5', mRNA sequencegi|57361714|gnl|dbEST|27093409|gb|C 48.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024